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Article: Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency

TitleCompound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency
Authors
Yang, WLee, PPWThong, MKRamanujam, TMShanmugam, AKoh, MTChan, KWYing, DWang, YShen, JYang, JLau, YL
KeywordsGenotype-phenotype correlation
Multiple intestinal atresias (MIA)
Severe combined immunodeficiency (SCID)
TTC7A
Whole exome sequencing (WES)
Issue Date2015
PublisherBlackwell Munksgaard. The Journal's web site is located at http://www.blackwellpublishing.com/journals/CGE
Citation
Clinical Genetics, 2015 How to Cite?
DOI: http://dx.doi.org/10.1111/cge.12553
Persistent Identifierhttp://hdl.handle.net/10722/211879
ISSN
0009-9163
2021 Impact Factor: 4.296
2020 SCImago Journal Rankings: 1.543
ISI Accession Number ID
WOS:000364637900008

 

DC FieldValueLanguage
dc.contributor.authorYang, W-
dc.contributor.authorLee, PPW-
dc.contributor.authorThong, MK-
dc.contributor.authorRamanujam, TM-
dc.contributor.authorShanmugam, A-
dc.contributor.authorKoh, MT-
dc.contributor.authorChan, KW-
dc.contributor.authorYing, D-
dc.contributor.authorWang, Y-
dc.contributor.authorShen, J-
dc.contributor.authorYang, J-
dc.contributor.authorLau, YL-
dc.date.accessioned2015-07-21T02:14:42Z-
dc.date.available2015-07-21T02:14:42Z-
dc.date.issued2015-
dc.identifier.citationClinical Genetics, 2015-
dc.identifier.issn0009-9163-
dc.identifier.urihttp://hdl.handle.net/10722/211879-
dc.languageeng-
dc.publisherBlackwell Munksgaard. The Journal's web site is located at http://www.blackwellpublishing.com/journals/CGE-
dc.relation.ispartofClinical Genetics-
dc.rightsThe definitive version is available at www.blackwell-synergy.com-
dc.subjectGenotype-phenotype correlation-
dc.subjectMultiple intestinal atresias (MIA)-
dc.subjectSevere combined immunodeficiency (SCID)-
dc.subjectTTC7A-
dc.subjectWhole exome sequencing (WES)-
dc.titleCompound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency-
dc.typeArticle-
dc.identifier.emailYang, W: yangwl@hkucc.hku.hk-
dc.identifier.emailLee, PPW: ppwlee@hku.hk-
dc.identifier.emailChan, KW: kwchan@hku.hk-
dc.identifier.emailYing, D: jonson@hku.hk-
dc.identifier.emailYang, J: jingy09@hku.hk-
dc.identifier.emailLau, YL: lauylung@hku.hk-
dc.identifier.authorityYang, W=rp00524-
dc.identifier.authorityLee, PPW=rp00462-
dc.identifier.authorityLau, YL=rp00361-
dc.identifier.doi10.1111/cge.12553-
dc.identifier.pmid25534311-
dc.identifier.scopuseid_2-s2.0-84946488916-
dc.identifier.hkuros244470-
dc.identifier.isiWOS:000364637900008-
dc.publisher.placeDenmark-
dc.identifier.issnl0009-9163-

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